The human phenotype ontology in 2021 S Köhler, M Gargano, N Matentzoglu, LC Carmody, D Lewis-Smith, ... Nucleic acids research 49 (D1), D1207-D1217, 2021 | 728 | 2021 |
Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources S Köhler, L Carmody, N Vasilevsky, JOB Jacobsen, D Danis, JP Gourdine, ... Nucleic acids research 47 (D1), D1018-D1027, 2019 | 686 | 2019 |
The human phenotype ontology in 2017 S Köhler, NA Vasilevsky, M Engelstad, E Foster, J McMurry, S Aymé, ... Nucleic acids research 45 (D1), D865-D876, 2017 | 622 | 2017 |
The human phenotype ontology in 2017 S Kohler, NA Vasilevsky, M Engelstad, E Foster, J McMurry, S Ayme, ... | 349 | 2017 |
How many rare diseases are there? M Haendel, N Vasilevsky, D Unni, C Bologa, N Harris, H Rehm, ... Nature reviews drug discovery 19 (2), 77-78, 2020 | 330 | 2020 |
The Monarch Initiative: an integrative data and analytic platform connecting phenotypes to genotypes across species CJ Mungall, JA McMurry, S Köhler, JP Balhoff, C Borromeo, M Brush, ... Nucleic acids research 45 (D1), D712-D722, 2017 | 303 | 2017 |
On the reproducibility of science: unique identification of research resources in the biomedical literature NA Vasilevsky, MH Brush, H Paddock, L Ponting, SJ Tripathy, ... PeerJ 1, e148, 2013 | 267 | 2013 |
The Cell Ontology 2016: enhanced content, modularization, and ontology interoperability AD Diehl, TF Meehan, YM Bradford, MH Brush, WM Dahdul, DS Dougall, ... Journal of biomedical semantics 7, 1-10, 2016 | 246 | 2016 |
The human phenotype ontology: semantic unification of common and rare disease T Groza, S Köhler, D Moldenhauer, N Vasilevsky, G Baynam, T Zemojtel, ... The American Journal of Human Genetics 97 (1), 111-124, 2015 | 230 | 2015 |
The Monarch Initiative in 2019: an integrative data and analytic platform connecting phenotypes to genotypes across species KA Shefchek, NL Harris, M Gargano, N Matentzoglu, D Unni, M Brush, ... Nucleic acids research 48 (D1), D704-D715, 2020 | 208 | 2020 |
The Resource Identification Initiative: A cultural shift in publishing A Bandrowski, M Brush, JS Grethe, MA Haendel, DN Kennedy, S Hill, ... Neuroinformatics 14, 169-182, 2016 | 178 | 2016 |
Characterizing long COVID: deep phenotype of a complex condition RR Deer, MA Rock, N Vasilevsky, L Carmody, H Rando, AJ Anzalone, ... EBioMedicine 74, 2021 | 176 | 2021 |
OBO Foundry in 2021: operationalizing open data principles to evaluate ontologies R Jackson, N Matentzoglu, JA Overton, R Vita, JP Balhoff, PL Buttigieg, ... Database 2021, baab069, 2021 | 140 | 2021 |
Reproducible and reusable research: are journal data sharing policies meeting the mark? NA Vasilevsky, J Minnier, MA Haendel, RE Champieux PeerJ 5, e3208, 2017 | 129 | 2017 |
Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency WP Bone, NL Washington, OJ Buske, DR Adams, J Davis, D Draper, ... Genetics in Medicine 18 (6), 608-617, 2016 | 105 | 2016 |
Dealing with data: A case study on information and data management literacy MA Haendel, NA Vasilevsky, JA Wirz PLoS biology 10 (5), e1001339, 2012 | 90 | 2012 |
Navigating the phenotype frontier: the monarch initiative JA McMurry, S Köhler, NL Washington, JP Balhoff, C Borromeo, M Brush, ... Genetics 203 (4), 1491-1495, 2016 | 70 | 2016 |
The GA4GH Phenopacket schema defines a computable representation of clinical data JOB Jacobsen, M Baudis, GS Baynam, JS Beckmann, S Beltran, ... Nature biotechnology 40 (6), 817-820, 2022 | 65 | 2022 |
Is authorship sufficient for today’s collaborative research? A call for contributor roles NA Vasilevsky, M Hosseini, S Teplitzky, V Ilik, E Mohammadi, J Schneider, ... Accountability in Research 28 (1), 23-43, 2021 | 62 | 2021 |
A simple standard for sharing ontological mappings (SSSOM) N Matentzoglu, JP Balhoff, SM Bello, C Bizon, M Brush, TJ Callahan, ... Database 2022, baac035, 2022 | 52 | 2022 |